ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.313C>T (p.Leu105Phe) (rs375083165)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041822 SCV000065518 likely benign not specified 2010-12-22 criteria provided, single submitter clinical testing The Leu105Phe variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. This residue is not highly conserved in mamm als and computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a hig h likelihood of impact to the protein. In addition, horse has Phenylalanine sugg esting that this variant is well tolerated at this position. In summary, the dat a suggests that this variant is more likely benign.
GeneDx RCV000041822 SCV000724739 likely benign not specified 2017-12-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000668396 SCV000792988 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-07-25 criteria provided, single submitter clinical testing

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